Purpose of this Blog

The purpose of this blog is to help myself as well as others to understand aniridia. This is a very rare condition, and most people have never heard of it. Hopefully, through posts, comments and links we can all gain a better understanding of what aniridia is.

Here is what I've learned so far ......

Aniridia - congenital absence or partial absence of the iris. (http://www.aniridia.net/whatis.html) However, aniridia is more than just being born without an iris. (See below : Other issues with aniridia.)

How Common is Aniridia? - Aniridia occurs between 1 in 50,000 to 1 in 100,000.

What Causes Aniridia? - The genetic defect has been found to be a deletion of chromosome 11. It is believed that aniridia is not caused by anything that a parent does or does not do.

Other Issues With Aniridia - Aniridics may have any of the following issues, in addition to having no iris.

• Wilms Tumor
• Cataract
• Glaucoma
• Lens Dislocation
• Nystagmus
• Corneal Pannus
• Foveal Dysplasia
• Optic Nerve Hypoplasia

For more information on any of the above mentioned conditions, I recommend reviewing the Aniridia Foundation International website :
http://www.aniridia.net/infomenu.html

Treatments - We have not been advised of any specific treatments yet. I have learned that aniridics should wear sunglasses or have their eyes shaded from the sun. Aniridics must keep a regular schedule of appointments with opthalmologists. They must also receive an ultrasound of the abdomen for the first 5 or so years of life to be sure the Wilms Tumor has not developed.

Useful Links :

Aniridia Foundation International - http://www.aniridia.net/

Aniridia Network - http://www.aniridia.org/

Piper's Diagnosis

Our daughter, Piper, was born on March 2, 2010. The pediatricians at the hospital informed us that Piper did not have much visible iris. They were concerned, and they wanted us to see a pediatric opthalmologist. Our appointment was scheduled for March 8. Piper was 6 days old. The opthalmologist told us that Piper had sporadic aniridia. He went on to explain so many details. It was all a bit overwhelming. We left the appointment not knowing what to do next. Neither of us had ever heard of aniridia, and we had no idea what this really meant.

We were referred to Duke to see a pediatric opthalmologist (glaucoma specialist) and to start the ultrasounds. Piper will have to see the specialist at Duke every 3 months, and she'll have an ultrasound every 3 months for at least the first 5 years of her life.

We met the opthalmologist at Duke. She was very patient and informative. So far, Piper's eyes look good... no glaucoma. We also had the first ultrasound. We are still waiting for the results.

Other than the aniridia, Piper is very healthy. She is eating and sleeping well, and she is gaining weight. So, for now, we treat her just like any other healthy baby. We just try to keep bright lights and sunshine to a minimum.

Hopefully we'll receive the results from the ultrasound soon!

No matter what the outcome of any of the tests, we know that God has a very special plan for this very special little girl. We pray for her health and happiness. Today Piper is 23 days old, and we LOVE her so much!